Canonical Allele Identifier: CA2087203822

Gene: DGKH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42180325_42180329delinsCCAAA , CM000675.2:g.42180325_42180329delinsCCAAA	GRCh38
NC_000013.10:g.42754461_42754465delinsCCAAA , CM000675.1:g.42754461_42754465delinsCCAAA	GRCh37
NC_000013.9:g.41652461_41652465delinsCCAAA	NCBI36
NG_029191.2:g.145290_145294delinsCCAAA
NG_029191.3:g.145290_145294delinsCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.1538+2105_1538+2109delinsCCAAA MANE Select	ENSP00000337572.4:n.1538+2105_1538+2109delinsCCAAA
ENST00000261491.9:c.1538+2105_1538+2109delinsCCAAA	ENSP00000261491.4:n.1538+2105_1538+2109delinsCCAAA
ENST00000337343.8:c.1538+2105_1538+2109delinsCCAAA	ENSP00000337572.4:n.1538+2105_1538+2109delinsCCAAA
ENST00000379274.6:c.1538+2105_1538+2109delinsCCAAA	ENSP00000368576.3:n.1538+2105_1538+2109delinsCCAAA
ENST00000498255.6:n.1769+2105_1769+2109delinsCCAAA
ENST00000536612.3:c.1130+2105_1130+2109delinsCCAAA	ENSP00000445114.2:n.1130+2105_1130+2109delinsCCAAA
ENST00000626247.2:c.*627+2105_*627+2109delinsCCAAA	ENSP00000486329.1:n.*627+2105_*627+2109delinsCCAAA
ENST00000627777.2:c.1130+2105_1130+2109delinsCCAAA	ENSP00000486838.1:n.1130+2105_1130+2109delinsCCAAA
ENST00000628433.2:c.1130+2105_1130+2109delinsCCAAA	ENSP00000485809.1:n.1130+2105_1130+2109delinsCCAAA
NM_001204504.2:c.1538+2105_1538+2109delinsCCAAA	NP_001191433.1:n.1538+2105_1538+2109delinsCCAAA
NM_001204505.2:c.1130+2105_1130+2109delinsCCAAA	NP_001191434.1:n.1130+2105_1130+2109delinsCCAAA
NM_001204506.2:c.1130+2105_1130+2109delinsCCAAA	NP_001191435.1:n.1130+2105_1130+2109delinsCCAAA
NM_001297429.1:c.803+2105_803+2109delinsCCAAA	NP_001284358.1:n.803+2105_803+2109delinsCCAAA
NM_152910.5:c.1538+2105_1538+2109delinsCCAAA	NP_690874.2:n.1538+2105_1538+2109delinsCCAAA
NM_178009.4:c.1538+2105_1538+2109delinsCCAAA	NP_821077.1:n.1538+2105_1538+2109delinsCCAAA
NR_123714.1:n.1262+2105_1262+2109delinsCCAAA
NR_123715.1:n.1875+2105_1875+2109delinsCCAAA
NM_001204505.3:c.1130+2105_1130+2109delinsCCAAA	NP_001191434.1:n.1130+2105_1130+2109delinsCCAAA
NM_001204506.3:c.1130+2105_1130+2109delinsCCAAA	NP_001191435.1:n.1130+2105_1130+2109delinsCCAAA
NM_001297429.2:c.803+2105_803+2109delinsCCAAA	NP_001284358.1:n.803+2105_803+2109delinsCCAAA
NM_152910.6:c.1538+2105_1538+2109delinsCCAAA	NP_690874.2:n.1538+2105_1538+2109delinsCCAAA
NM_178009.5:c.1538+2105_1538+2109delinsCCAAA MANE Select	NP_821077.1:n.1538+2105_1538+2109delinsCCAAA
NR_123714.2:n.1246+2105_1246+2109delinsCCAAA
NR_123715.2:n.1859+2105_1859+2109delinsCCAAA
NM_001204504.3:c.1538+2105_1538+2109delinsCCAAA	NP_001191433.1:n.1538+2105_1538+2109delinsCCAAA